McCorquodale M M, Bowdle F C
Fertil Steril. 1985 Feb;43(2):229-33. doi: 10.1016/s0015-0282(16)48378-0.
Two successful pregnancies in a patient with a 45,X karyotype are reported. Twelve pregnancies have been reported in 9 monosomy X patients and 57 pregnancies in 24 patients with both a 45,X and a 46,XX cell line. The patient reported here was diagnosed at 10 years of age as a Turner mosaic (45,X/46,XX), but showed no evidence of a normal cell line in any of the four tissues analyzed 15 years later. The difficulty in detecting mosaicism as well as the stability of autosomal and sex chromosomal mosaicism are discussed. An argument is made for early cytogenetic evaluation, utilizing multiple tissues, and analyzing an adequate number of cells.
报告了一名核型为45,X的患者成功怀孕两次。已有报道称，9名X单体患者有12次怀孕，24名同时具有45,X和46,XX细胞系的患者有57次怀孕。此处报告的患者在10岁时被诊断为特纳嵌合体（45,X/46,XX），但15年后在分析的四个组织中均未发现正常细胞系的证据。文中讨论了检测嵌合体的困难以及常染色体和性染色体嵌合体的稳定性。提出了进行早期细胞遗传学评估的观点，即利用多种组织并分析足够数量的细胞。
